Correlation of genetic mutations with inflammatory markers and micronutrient status in familial Mediterranean fever

Abstract

Aims: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder characterized by recurrent febrile episodes and serosal inflammation. This study aimed to investigate the association between CRP levels, MEFV genotypes, and serum levels of vitamin D, vitamin B12, and iron in adult FMF patients. Methods: This retrospective cross-sectional study included 392 adult FMF patients. Laboratory parameters evaluated in the analysis included erythrocyte sedimentation rate, C-reactive protein (CRP), fibrinogen, hemoglobin, white blood cell count, serum iron, total iron-binding capacity, ferritin, vitamin B12, vitamin D, and genetic findings. Results: CRP and other acute phase reactants were significantly higher in the homozygous (p<0.001) and compound heterozygous (p=0.002) FMF groups, and significantly lower in carriers (p<0.001). Univariate logistic regression showed compatibility between CRP and other markers (fibrinogen and WBC), with significant associations in the two FMF genotype groups. Carriers had a significantly lower risk of elevated CRP (p<0.001). In multivariate analysis, male sex and homozygous mutation remained significant predictors of high CRP levels. No significant differences were found in vitamin D and ferritin levels, while vitamin B12 levels were significantly lower in carriers (p=0.04). Conclusion: This study demonstrates that CRP levels were elevated at the time of diagnosis, particularly in FMF patients with a homozygous genotype. Given the high prevalence of FMF in the region, clinicians—especially primary care providers—should consider FMF in the differential diagnosis and pursue genetic testing when appropriate.

Keywords

• Familial Mediterranean fever
• C-reactive protein
• genotype
• inflammation
• MEFV
• vitamin D
• vitamin B12

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